NM_000372.5:c.255T>G

  1. Home
  2. NM_000372.5:c.255T>G

HGVS Expressions

  • NG_008748.1:g.5337T>G
  • NM_000372.5:c.255T>G
  • NP_000363.1:p.Tyr85Ter

Associated Genes

Tyrosinase
Back to search Result
Genomic Location

chr11:89178208

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

746208814

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
203100.G.1LebanonLikely PathogenicOculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1BZahed et al. 2005 Group of 14 patients with both homozygou...
Download Table

Contributors

  • Sayeeda Hana: 06.02.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 09.02.2020
  • Sayeeda Hana: 06.02.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.